A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002792



Internal ID19092009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9266587..9340463hg38UCSC Ensembl
Innerchr1:9326646..9400522hg19UCSC Ensembl
Innerchr1:9249233..9323109hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3873877
hg1973877
hg1873877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n100
Supporting Variantsnssv3480512, nssv3477195
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002792
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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